title: Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism?
abstract: In oculocutaneous albinism (OCA), one can distinguish between a tyrosinase-negative form (no residual activity of the enzyme tyrosinase) and a tyrosinase-positive form (with detectable residual enzymatic activity) and their respective subtypes. In infancy and early childhood the clinical discrimination between tyrosinase-positive OCA and tyrosinase-negative OCA can be very difficult. To date, only the hair-bulb L-dopa incubation test has been helpful in discriminating between the tyrosinase (ty)-negative and ty-positive forms of OCA. In 68 patients with albinism of the eye, 24 had an oculocutaneous form of albinism. We determined the ty relationship either by the L-dopa incubation test (younger patients) or by clinical appearance (older patients). We determined the full cycloplegic refraction in all patients and looked for a possible correlation of the refraction with the ty relationship. Our data suggest that an OCA patient with a hyperopic refractive error of > 4.0 D might have a ty-positive form of OCA. A patient with a moderate to high degree of myopia is more likely to have a ty-negative form of OCA. Determination of ty relationship is more reliable in patients with high degrees of hyperopia and, therefore, in patients with a ty-positive form of OCA. Statistical evaluation of the data was not possible in a sensible way due to the small number of patients involved in the present study.
authors.affiliation: Universitäts-Augenklinik und Poliklinik, Homburg/Saar, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Käsmann
authors.forename: K W
authors.initials: KW
authors.lastname: Ruprecht
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis* / Q000201:enzymology; D007223:Infant; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis* / Q000201:enzymology; D012029:Refraction, Ocular; D014443:Tyrosine / Q000378:metabolism
chemical_list: D014443:Tyrosine